Yale School of Public Health, Advanced Professional MPH Program, 60 College Street, New Haven, CT, 06510, USA.
Yale Center for Perinatal, Pediatric and Environmental Epidemiology, Chronic Disease Epidemiology, Yale School of Public Health, 1 Church Street, Fl 6Th Floor, New Haven, CT, 06510, USA.
Hum Genomics. 2022 Dec 20;16(1):69. doi: 10.1186/s40246-022-00442-8.
Preimplantation genetic testing for aneuploidy (PGT-A) has been used widely during in vitro fertilization procedures in assisted reproductive centers throughout the world. Despite its wide use, concerns arise from the use of PGT-A technology in clinical decision-making. We address knowledge gaps in PGT-A, summarizing major challenges and current professional guidelines. First, PGT-A is a screening test and not a diagnostic test. Second, mosaicism is much higher in the blastocyst stage from PGT-A than had been recognized previously and a mosaic embryo may not accurately represent the genetic disease risk for future fetal disorders. Third, PGT-A was not validated clinically before use in patients; the best use of this technology for selected age-groups remains uncertain. Given these gaps, we believe that current professional policies relying on industry-self-regulation are insufficient. In the USA, the Food and Drug Administration may be the most appropriate agency to provide more definitive guidelines and regulations that are needed for better practice.
胚胎植入前遗传学检测（PGT-A）已在世界各地的辅助生殖中心的体外受精过程中广泛应用。尽管其应用广泛，但在临床决策中使用 PGT-A 技术时也会出现一些问题。我们旨在填补 PGT-A 方面的知识空白，总结了主要的挑战和当前的专业指南。首先，PGT-A 是一种筛查测试，而不是诊断测试。其次，与之前的认识相比，PGT-A 检测的囊胚期嵌合体率要高得多，并且嵌合体胚胎可能无法准确代表未来胎儿疾病的遗传疾病风险。第三，在将该技术用于患者之前，尚未在临床上对其进行验证；对于特定年龄段的患者，该技术的最佳使用仍不确定。鉴于这些差距，我们认为目前依赖行业自律的专业政策是不够的。在美国，食品和药物管理局（FDA）可能是最适合提供更明确的指导方针和法规的机构，这些指导方针和法规是改善实践所必需的。
